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3a Child Health > Genetics > Flashcards

Genetics Flashcards

1
Q

What is Kleinfelter Syndrome?

A

47 XXY - male has an additional X

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2
Q

What are the clinical features of Kleinfelter Syndrome?

A

Tall, wider hips, weaker muscles, small testicles, shyness, reduced libido, gynaecomastia, infertility

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3
Q

What is high in Kleinfelter syndrome?

A

FSH and LH

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4
Q

What is the management of Kleinfelter Syndrome?

A

Testosterone injections
IVF
SLT
Physio
Educational support

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5
Q

What is Turners Syndrome?

A

A female has a single X making them 45 XO

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6
Q

What are the clinical features of Turners Syndrome?

A

Short stature, spoon shaped nails, webbed neck, high arch palate, downward sloping eyes, cubitus valgus, broadly spaced nipples

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7
Q

What is the treatment of Turner Syndrome?

A

Growth hormone therapy
Oestrogen and progesterone
Fertility treatment

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8
Q

What is Down Syndrome?

A

Three copies of chromosome 21

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9
Q

What are the clinical features of Downs?

A

Brachycephaly (small head and flat back)
Short neck and short stature
Flattened facial features
Prominent epicanthic folds
Upward sloping palpebral fissures
Single palmar crease
Wide sandal gap

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10
Q

What is the combined test for Downs?

A

USS at 11-14 weeks measures nuchal translucency - back of head thickness

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11
Q

Give 2 antenatal testing techniques for downs

A

Chorionic villus sampling
Amniocentesis

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12
Q

What is the gold standard test for Downs

A

karyotype analysis of foetal cells via chorionic villus sampling or amniocentesis

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13
Q

What is checked 2 yearly in Downs?

A

Thyroid

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14
Q

What is Edward Syndrome?

A

Trisomy 18

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15
Q

What are some USS findings of Edward Syndrome?

A

Growth restriction
Single umbilical artery
Small placenta
Polyhydraminos
Strawberry shaped head

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16
Q

What are some features of Edward Syndrome in live born infants?

A

Congenital heart defects
Severe GORD
Severe intellectual disability
Seizures

17
Q

What is Patau Syndrome?

A

Trisomy 13

18
Q

What are some prenatal presentations of Patau Syndrome?

A

cleft lip and palate
Microcephaly
Cutis aplasia - skin missing from scalp
Kidney cysts
Small penis
Microphthalmia - small eyes
Rocket bottom feet

19
Q

What are some postnatal features of Patau Syndrome?

A

Low birth weight
Sloping forehead
Close set eyes
Short nose
Cleft palate
Small jaw
Low set ears
Cataracts
Seizures

20
Q

What is fragile X syndrome?

A

Mutation in FMR1 gene on X chromosome important in cognitive development
Always males

21
Q

What is the presentation of fragile X syndrome?

A

Delayed S&L
Intellectual disability
Long, narrow face and large ears
Large testicles
Hypermobile joints

22
Q

What is muscular dystrophy?

A

Progressive weakness and loss of muscle mass due to mutations in genes responsible for production of dystrophin resulting in progressive muscle degeneration

23
Q

What are the clinical features of muscular dystrophy?

A

Progressive weakness
Delayed milestones
Waddling gait
Faltering growth
Fatigue
Intellectual impairment
Tip toe walking

24
Q

What is Gowers sign?

A

DMD - child climbs up their legs when rising from the floor

25
Q

What is calf pseudohypertrophy?

A

accumulation of connective tissue and fat replacing muscle tissue

26
Q

What are the investigations for muscular dystrophy?

A

Serum creatine kinase leaks from damaged muscle cells
Genetic analysis
Muscle biopsy - dystrophin protein
ECG and ECHO

27
Q

What is Angelman Syndrome?

A

Loss of function of UBE3A gene (deletion on C15)

28
Q

What are some clinical features of Angelman syndrome?

A

Happy demeanour
Wide mouth with widely spaced teeth
Fascination with water
Coordination and balance problems
Inappropriate laughter
Hand flapping
ADHD

29
Q

What is Prader Willi Syndrome?

A

Loss of functional genes on proximal arm of C15 from father

30
Q

What are some features of Prader Willi?

A

Constant insatiable hunger causing obesity
Poor muscle tone
Mild-moderate learning disability
Hypogonadism
Fairer soft skin
Dysmorphic features
Narrow forehead
Almond eyes
Squint

31
Q

What are the clinical features of Noonan Syndrome?

A

Thickly hooded eyes
Wispy hair
Discoloured skin spots
Large, tall forehead
Widely spaced nipples and eyes
Webbed neck

32
Q

What are some conditions associated with Noonans?

A

Congenital heart disease - PVD, ASD
Cryptochidism
Learning disability
Bleeding disorders

33
Q

What is the diagnosis for Noonan?

A

Amniocentesis
Foetal USS
Chorionic villus sampling
Genetic testing
Physical exam at birth

34
Q

What is William Syndrome?

A

Deletion of 25-28 genes on one copy of C7 usually due to random deletion

35
Q

What are the clinical features of Williams Syndrome?

A

Broad forehead
Very sociable and trusting
Starburst eyes
Long philtrum
Flat nasal bridge
Small chin

36
Q

What are some conditions associated with Williams Syndrome?

A

ADHD
Supravalvular aortic stenosis
Hypercalcaemia
Hypertension

3a Child Health (14 decks)

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